Gene: SRY ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894972
rs104894972
SRY
0.010 GeneticVariation BEFREE Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 10852465

2000
dbSNP: rs104894971
rs104894971
SRY
0.010 GeneticVariation BEFREE A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. 9521592

1998
dbSNP: rs104894966
rs104894966
SRY
0.010 GeneticVariation BEFREE A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. 8105086

1993